Abstract
Congenital recessive ichthyoses (CRI) form a remarkably heterogeneous group of diseases, resulting from mutations in at least eight distinct genes, six of which have been identified so far. In the present study we ascertained two CRI families of Iranian and Druze origins. Exploiting the high degree of consanguinity characterizing these populations, we typed all family members for microsatellite markers spanning the major CRI chromosomal loci and used homozygosity mapping to identify candidate genes for subsequent mutational analysis. This strategy led to the rapid identification of two novel homozygous CRI-causing mutations in TGM1 (c.2058delC) and FLJ39501 (p.W521X). The present data demonstrate that the molecular analyses of CRI in consanguineous families can be readily completed in less than 96 h at relatively low costs.
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Acknowledgments
We are grateful to the family members for their participation in our study. We wish to thank Rita Fuhrer-Mor, Vered Friedman, and Janine Kurtenbach for expert services in nucleic acid analysis. This study was supported in part by a grant provided by the Ruth and Allen Ziegler Fund for Pediatric Research and a grant provided by the Deutsche Forschungsgemeinschaft.
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Lugassy, J., Hennies, H.C., Indelman, M. et al. Rapid detection of homozygous mutations in congenital recessive ichthyosis. Arch Dermatol Res 300, 81–85 (2008). https://doi.org/10.1007/s00403-007-0815-0
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DOI: https://doi.org/10.1007/s00403-007-0815-0